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Is Abnormal mRNA Processing Responsible for the Low Percentage of Variants at Residue 27 of the HumanαChain?

 

作者: SchroederW. A.,  

 

期刊: Hemoglobin  (Taylor Available online 1985)
卷期: Volume 9, issue 6  

页码: 609-612

 

ISSN:0363-0269

 

年代: 1985

 

DOI:10.3109/03630268508997041

 

出版商: Taylor&Francis

 

数据来源: Taylor

 

摘要:

Mutants of theαchain commonly are present to the extent of 20-25% of a heterozygote's hemoglobin. A major exception is Hb Fort Worth (α227(β8)Glu→Glyβ2) which was first identified in a Black family by Schneideret al.(1) and has now been reported by Carstairset al.(2) in a second Black family. In all heterozygotes, this variant accounts for only 4-5% of the total hemoglobin. As Carstairset al.note,“The reason for the low quantity of Hb Fort Worth in heterozygotes (4-5%) remains unclear.”Perhaps, in a manner analogous to Hb E, abnormal mRNA processing may be responsible.

 

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